OGG1, 8-oxoguanine DNA glycosylase, 4968

N. diseases: 313; N. variants: 38
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893751
rs104893751 		0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs907102077
rs907102077 		1.000 0.040 3 9760752 missense variant G/A snv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		Neoplasms 0.700 0
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 1999 1999
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs747091571
rs747091571 		0.925 0.080 3 9765977 missense variant C/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs747091571
rs747091571 		0.925 0.080 3 9765977 missense variant C/A snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs747091571
rs747091571 		0.925 0.080 3 9765977 missense variant C/A snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs747091571
rs747091571 		0.925 0.080 3 9765977 missense variant C/A snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs775439790
rs775439790 		0.851 0.080 3 9765858 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0033999
Disease: Pterygium
Pterygium 		Eye Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye 		Eye Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea 		Eye Diseases 0.010 1.000 1 2004 2004
dbSNP: rs56053615
rs56053615 		0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2004 2004
dbSNP: rs764643047
rs764643047 		0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2004 2004
dbSNP: rs764643047
rs764643047 		0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2004 2004
dbSNP: rs764643047
rs764643047 		0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2004 2004
dbSNP: rs775439790
rs775439790 		0.851 0.080 3 9765858 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2004 2004
dbSNP: rs775439790
rs775439790 		0.851 0.080 3 9765858 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2004 2004
dbSNP: rs775439790
rs775439790 		0.851 0.080 3 9765858 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1052133
rs1052133 		0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs1245554802
rs1245554802 		0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1245554802
rs1245554802 		0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs746702110
rs746702110 		0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2005 2005